16P11.2 Deletion SyndromeNCT01238250
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
An observational study of 16P11.2 Deletion Syndrome and 16p11.2 Duplications, run by Simons Searchlight at 2 sites in United States.
Trial summary
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion
- How many people
- 100,000 participants
- Where
- 2 sitesUnited States
- Study dates
- Oct 2010to Oct 2050
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study continues to enroll and collect data from people who have the copy number variants, also called CNVs, and gene changes, specified above. Data is also collected from matched sibling control subjects and parents. This study has already collected data on approximately 7,000 participants, including approximately 4,000 carriers. Participants include people who have a gene change and at least one parent or guardian. Participants can also include multiple people who have a gene change and are within the same family. Study aims to enroll up to 100,000 participants.
Who may be able to join
- Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https://www.simonssearchlight.org/research/what-we-study/
- Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.
- Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.
- Able and willing to provide consent.
Who cannot join
- -Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Wendy Chung, MD PhD, 855-329-5638
- Recruiting
Geisinger Health System
Lewisburg, Pennsylvania, 17837
Cora Taylor, PhD, 855-329-5638
About this study
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.
Read the detailed description
Simons Searchlight has expanded over the last several years to include additional gene changes and participation through remote formats, either online or by phone. This allows English and Spanish-speaking families from across the world to participate at times that are convenient to their schedule. Participants can donate blood, saliva, or both. These samples are then linked to medical, behavioral, learning, and developmental data in order to understand the effects of specific gene changes.
Information provided by participants will be stripped of any personal identifying information and made available to qualified scientists around the world.
The Simons Foundation, a New York-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of people who have genetic and developmental differences.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP
- Keywords
- 16p11.2, 16p11.2 del, 16p11.2 deletion, 16p11.2 dup, 16p11.2 duplication, chromosome 16, chromosome 16p, chromosome 16p11, chromosome 16p11.2, 1q21.1, 1q21.1 del, 1q21.1 deletion, 1q21.1 dup, 1q21.1 duplication, chromosome 1, chromosome 1q, chromosome 1q21, chromosome 1q21.1, genetic mutation, genetic variant
- Medical subject headings
- 16p11.2 Deletion Syndrome, Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb, Chromosome 1q21.1 Duplication Syndrome, Hereditary Sensory and Autonomic Neuropathies, Epileptic Encephalopathy, Early Infantile, 4, Cornea Plana 1, Chromosome 15q13.3 Microdeletion Syndrome, Chromosome 17q21.31 Deletion Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Copy Number Variants | Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders. | |
| Gene Variants | Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Baseline comprehensive collection of medical, behavioral, learning, and developmental information of people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders.
Families with people who have specific documented gene changes that are associated with features of autism and other neurodevelopmental disorders will report detailed medical and family history information by phone. Online research surveys will be used to collect information about behavioral and learning characteristics, with the goal of improving clinical care and treatment for these people.
Measured: Baseline data is collected over the course of one month, on average.
Secondary outcomes (1)
Longitudinal, or long-term, comprehensive collection of medical, behavioral, learning, and developmental information from people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders.
To monitor and document the development of people who have gene changes that are related to autism and other neurodevelopmental disorders, online research surveys and updates to the family and medical history will be collected on an annual basis.
Measured: Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Nov 2010 (estimated)
- Study startOct 2010
- Primary completionOct 2050 (estimated)
- Study completionOct 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for 16P11.2 Deletion SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 100,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Simons Searchlight
- Sponsor type
- University, hospital or other
- Collaborators
- Geisinger Clinic, Boston Children's Hospital, Simons Foundation
- Responsible party
- Sponsor
- Investigators
- Cora Taylor, PhD, Principal investigator, Geisinger ClinicWendy Chung, MD PhD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01238250
- Sponsor's protocol ID
- 2023-1257
- Other IDs
- Simons Searchlight, Simons VIP, Simons VIP Connect
- Status last verified
- Jul 2026
- First submitted
- 9 Nov 2010
- Last updated
- 23 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Identifiers will be removed from data which will be stored in a secure database; qualified researchers can request access through the Simons Foundation Autism Research Initiative (www.SFARI.org)
Publications
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.
PubMed 18184952Simons Vip Consortium. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.
PubMed 22445335Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Mace A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203.
PubMed 23054248Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147.
PubMed 25493922